ClinVar Miner

Submissions for variant NM_001848.3(COL6A1):c.311C>T (p.Thr104Met)

gnomAD frequency: 0.00003  dbSNP: rs781396484
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000336707 SCV000337933 uncertain significance not provided 2015-12-01 criteria provided, single submitter clinical testing
GeneDx RCV000336707 SCV001992492 uncertain significance not provided 2019-09-04 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Reported in a patient with limb-girdle muscular dystrophy in published literature; a second COL6A1 variant was not identified (Nallamilli et al., 2018); This variant is associated with the following publications: (PMID: 30564623)
Labcorp Genetics (formerly Invitae), Labcorp RCV002518958 SCV003447257 benign Bethlem myopathy 1A 2023-04-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000336707 SCV003833842 uncertain significance not provided 2021-06-26 criteria provided, single submitter clinical testing

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